Genetic Test

[jknnej]

So I knew it was around but last year at the GI dr. he didn't say anything about the genetic test for Celiac. I was told I may have it, I may not based on regular blood tests and endoscopy. I've been gluten-free anyway since it helped my symptoms.

So tomorrow I will go take the genetic test and my GI dr. said if it is negative there is no way I can have celiac disease. Boy would that not be great? I wonder why they didn't tell me about this test last year? Anyone?

[AndreaB]

I assume they will be looking at the genes that predispose to celiac or gluten sensitivity.

You could still be gluten intolerant and have that gene and both celiac or gluten sensitivity can cause damage to the intestines. If you have the genes and have children then they would get one from you if you have two of them. Don't know what the test entails. Let us know the results.

Also, if you eat soy, I have read that that can wreak havoc on the intestines also.

[jknnej]

I'm not sure how it works...only that my dr told me that if the test is negative it is OK for me to eat gluten. Not even sure that I would but...

I'm not sure the difference between gluten intolerance and celiac disease?

[eKatherine]

I'm not sure how it works...only that my dr told me that if the test is negative it is OK for me to eat gluten. Not even sure that I would but...

I'm not sure the difference between gluten intolerance and celiac disease?

Here's how I see it: Celiac is a late stage of gluten intolerance. So all celiacs have gluten intolerance, but not all gluten intolerants have celiac yet.

[jknnej]

My dr said that if you have the gene, you may or may not have the disease...it can be dormant in your body or it can be active.

But according to her if you do NOT have the gene there is no possible way you can have it and therefore you can eat gluten. That is how she explained it to me.

[tarnalberry]

That would be true if they had identified all the genes that cause celiac disease. 2% of cases occur in people without any of the identified genes.

Additionally, that does not address non-celiac gluten intolerance, which mainstream medicine tends not to recognize. ;-/

[jknnej]

It is so difficult to know what to believe because my two GI dr's both do not think I should be gluten-free. They said my blood results only gave me about a 50/50 chance with no positive results from endoscopy.

They also said the blood test that was high for me was the least one used in determining celiac.

They are both surprised I am gluten-free. According to her if the gene comes back negative I shoud reincorporate wheat and see how I feel. Hmm???

[eleep]

My blood tests supposedly ruled Celiac out completely -- however, I'd also been on a diet for years that only included gluten in limited quantities. The genetic tests did help me feel like I had more crediblity with my healthcare practicioners.

My understanding is that the gluten intolerance/celiac thing has partly to do with the lack of communication between different specialities in medicine. Celiac has long been recognized as a specific GI disease -- and it's possible that a GI doc who's been out of medical school for a while might not be current on the research that indicates the more far-reaching implications of gluten intolerance. So it's partly a matter of interpretation and definition and probably also professional egos getting in the way as well.

[jknnej]

Yeah, I thought so too with my first doctor because he is older. But the woman I saw on Tuesday is young, probably in her 30s.....I doubt she is older than that. She seemed very knowledgeable about it, as did the office staff.

I am most likely going to remain gluten-free anyway but if the test comes back negative I may try re-incorporating gluten as she suggested just to see if I tolerate it.

[Rachel--24]

If you dont have a Celiac gene it doesnt necessaerily mean that your body isnt reacting to gluten. It just means that you probably wont develop Celiac. There are also some people with Celiac who dont have either of the Celiac genes....so as Tiffany said they havent yet identified all of the genes involved. This is what my GI told me as well. He doesnt rule out a problem with gluten based on a gene test alone. Listening to your body is the best thing you can do. If you feel bad eating wheat than you shouldnt eat it....regardless of what any test results say. That came straight out of the mouths of both GI doctors I saw.

In my opinion its very ignorant for a doctor to tell someone they should eat something that doesnt agree with them. If you eat eggs and they make you feel bad every time but the doctor says you are not sensitive to eggs based on test results....would you continue to eat eggs and feel bad just because the doctor told you to?

There are specific genes that are identified as causing a gluten intolerance that is *not* Celiac but damaging none the less. I have 2 of these genes but no Celiac gene. If my doctor told me to eat gluten I would fire him right then and there.

[debbie-doodles]

I'm confused about this very topic. My daughter's initial work came back negative, but then she had a biopsy and the doctor said it was positive for celiac, but it could also be other things. So we went gluten free in April 05. He rebiopsied in Dec. 05 and said that a lot of the damage in her intestines had been healed and he was almost certain she had celiac. THEN I saw him 2 weeks ago and he said we still needed to do the gene test. Many of my husbands family have wheat sensitivities, but none have been tested for celiac. So we did the gene test and they said it came back positive for ONE gene, but NOT the other. And so they don't think she has it. They said if she had celiac, then she'd be positive for both genes. And that the gene she tested positive for is the one that 39% of americans test positive for. I'm so confused. Now he wants to do a gluten challenge on her to see how she reacts to gluten. She's only 3 and doesn't really tell me if her tummy hurts after eating something. Plus, she has really bad reflux and if she misses any of her doses of medication, then she is really sick.....so that makes the doctor think that she doesnt' have celiac because her reflux hasn't cleared up at all. What is it with doctors? Does anyone really know about these tests?

[Webcrystal]

I'm guessing she has the DQ2 marker (rather than the DQ8). You only need ONE of these genetic markers that's a known fact. Tell your doctor to do some research. Approx 90% of celiacs have the DQ2 marker and about 8% have the DQ8 marker - probably because DQ8 is found in a lesser amount in the general population. If you search (google) on HLA DQ2 genetic celiac you will probably find a half dozen sites that talk about requiring ONE or the other marker and not both.

[Daxin]

That would be true if they had identified all the genes that cause celiac disease. 2% of cases occur in people without any of the identified genes.

Additionally, that does not address non-celiac gluten intolerance, which mainstream medicine tends not to recognize. ;-/

As far as the non-celiac gluten intolerance....do they not just call that a wheat allergy? I think that's what my step-son has. We were told hem ay be allergic to wheat.

[chrissy]

debbie, you have a really uninformed doctor!! celiac is staring him in the face and beating on his forehead and he refuses to acknoweldge it. my family is involved in a celiac study and the gal in charge told me they are looking for a more specific marker for celiac because they know that there are more genes involved.

[ms-sillyak-screwed]

jknnej -- How are you doing?

I have been trying to follow this thread don't mind my brain-fog. Did you have the genetic test?

The new dotors(s) I am seeing mentioned the genitic test for me. I had the eTG test done and I'm waiting for the results. I should know somehing this week. But I've been gluten & dairy free for almost 6-years, with secondary food allergies.

And for those in the KNOW...

Can you have a wheat allergy and not be a Celiac? And how can that be?

It's all very connfusing, and a lot of grey-areas...

[daffadilly]

Oh, the doctors are making such a mess with their spotty knowledge, as politely as I can put it

Everyone here is right on with their information on genes. You only have to have ONE gene to be celiac and yes, there are several celiac genes they think that are not identified yet.

You can also have DQ1, which only two labs in the U.S. tests for. (Enterolab being one of them) This is the gluten intolerant gene. & if you have two of them it is a baddie. One or two it comes with neurological things like depression, migraines, seizures, tics, bad tempers, ADD, dyslexia, ADHD, just to name a few.

I would caution everyone not to let the doctors use you for their guinea pigs. Would they do a gluten trial on their own child? Themselves? I think not. A gluten trial is totally unnecessary, IMO. Now that more & more people are going gluten free, you are going to see more doctors and people trying to dissuade you from the thought that the "bread of life" could make anyone sick. Can you imagine the consequences of half the country (the educated healthy half) not eating wheat and that expensive breakfast cereal? I bet it scares the bejeebers out of them You might ask the doc if their family is in the cereal business

The blood test are very unpredictable and unreliable for accurate results, especially in children & I think some people that do not consume that much wheat. The gene test (which is a cheek swab) is a better indicator, but the only true test of celiac or gluten intolerance is to just go on the diet & see if you feel better. how hard is that? we all know that it is not difficult & you will not lack calories or be malnourished like the doctors would lead you to believe, actually it is quite the contrary. The biggest benefit is that you will not be eating fast food & you will actually start to think about the foods that you put in your body.

If you have two of the genes you will pass one to each of your children. If you only have one gene you have a 50% chance that you will pass that gene on to each of your children. If you have two genes it means that you got one from your father & one from your mother.

Also, to the one that has one DQ2 gene, it is a possibility that you could also have one DQ1, which they probably did not test for. I have found in the experience with my family & in reading the boards that if you have two of the genes the symptoms are worse than having only one gene, but this does not always hold true.

[jknnej]

I got my results but I can't figure out how to interpret some of it. if anyone knows, please help:

It says:

HLA-DQB1 03(DQ7)

HLA-DQB1 -(DQ)-

HLA-DQ2 Negative

HLA-DQ8 Negative

My dr. says this means all of it is negative but I don't know how to interpet those top two results. Any thoughts? This test was sent away to Virginia to be done so I think it might be a reliable test.

What do you think?

[bigapplekathleen]

Just want to add my 2 cents...

I am a non-celiac gluten intolerant person, officially.

I had Dr Green do the genetic test, and it was negative, but he said that does not mean I don't have celiac, since 5% of celiacs don't test positive for the gene. It does make it UNLIKELY that I have celiac, but not impossible. He believed, though, that I was truly gluten-intolerant based on a myriad of other medical evidence. (I never had a biopsy before the gluten-free diet, so my biopsy 18 months into the diet was 'normal'.)

I am EXTREMELY sensitive to gluten and failed a gluten challenge miserably. (passed out twice, got horribly ill, etc) Every instance of being "glutened" makes me VERY ill.

So, here's what I know: I cannot eat gluten. I cannot eat grains inadvertently contaminated by gluten (corn, rice and rice products especially). I have to take lots of supplements to build up my immune system and intestinal function. (These supplements have worked miracles.) I will no longer listen to doctors who tell me to 'try' to eat gluten. That's ridiculous and it makes my body un-well.

I think you have to make an educated choice based on how your body feels. We know that gluten is difficult for most humans to digest, so perhaps everyone has some degree of sensitivity.

best wishes,

Kat

[jknnej]

I still would like to find out what the first two results mean....It's confusing...and it's really hard to get my dr on the phone!

[heli]

Dear jknnej - I am quite familiar with the gene testing and would be happy to give you the information you are looking for. However, I seem to have lost the question in the thread. Please restate and I will give it a try.

[par18]

I got my results but I can't figure out how to interpret some of it. if anyone knows, please help:

It says:

HLA-DQB1 03(DQ7)

HLA-DQB1 -(DQ)-

HLA-DQ2 Negative

HLA-DQ8 Negative

My dr. says this means all of it is negative but I don't know how to interpet those top two results. Any thoughts? This test was sent away to Virginia to be done so I think it might be a reliable test.

What do you think?

Hi,

This is what happened to me. Last May 05 I had a positive Dx for Celiac Disease via biopsy. I did not have my blood tested at that time. 2 weeks ago (15 months into the gluten-free diet with no return of symptoms), I decided to do a follow-up blood test to see what the results would be. I got back the results last week. All anti-body type tests were normal (negative). I did however have one of the two genes (DQ2). Even if I did not have a positive gene test I would still be gluten free because my health has never been better. My test results included a statement that said greater than 95% of celiac patients test positive for either DQ2 or DQ8, however these antigens may also be present in patients who do not have Celiac. Bottom line is there are probably exceptions for any rule but the true test is how do you feel based on what you eat. Good luck.

Tom

[heli]

Okay, I will give this a try anyway:

Early in genetic testing there was only

DQ 1

DQ 2

DQ 3

DQ 4

As more genetics were researched subtypes of these four were identified:

DQ1 having subtypes DQ5 and DQ6

DQ2 - no subtypes, it is bad by itself

DQ3 having subtypes DQ7, DQ8, DQ9

DQ4 - no subtypes (the only gene not associated with gluten sensitivity)

Celiac disease is a very narrow definition: specific damage to the small intestine which can be identified as flattened villi. The flattening is caused by the gluten reaction. However, one can have severe symptoms and a severe reaction to gluten without having flattened villi and by definition not have celiac disease.

The strict definition of celiac disease is linked with DQ2 and DQ8. This is why doctors say if you don't have DQ2 or DQ8 that you don't have celiac disease. True in most cases, however you can still have a severe case of malabsorption and horrible symptoms with gluten sensitivity (which is all the other DQ except DQ4).

The report of DQ B1 03 (DQ7) is giving you the address of the gene DQ B1 and then the type "3" and then the subtype "DQ7." The next line down reports nothing and I don't know why it is written that way. So your report only gives one of your 2 DQ genes. It is DQ7, which according to Dr Fine is almost identical in structure to DQ2 and predisposes to severe gluten sensitivity (but not celiac disease by definition).

Your report stating DQ2 negative and DQ8 negative is to reinforce that you do not carry the celiac disease gene. Unfortunately for us, some doctors think this means that gluten is not a problem. WRONG! All it means is that you probably do not have flattened villi, but you can still have gluten intolerance with severe symptoms and organ damage.

I hope this helps - I seem to be repeating myself.

[ms-sillyak-screwed]

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[ms-sillyak-screwed]

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[penguin]

Can you have a wheat allergy and not be a Celiac? And how can that be?

It's all very connfusing, and a lot of grey-areas...

Yes, because an allergic reation creates a different type of antibody. Allergies create IgE reactions, while celiac creates IgA, IgG, and TtG antibodies. Allergies also don't damage parts like celiac and other autoimmune diseases. They both are due to a hyperactive immune system reacting to something it shouldn't, but it works differently. With an allergy, the body attacks the offending substance (wheat, for example) which causes symptoms, but with celiac, the body attacks itself because of the gluten, if that makes any sense.